CAKUT
Gene: RRM2BEnsemblGeneIds (GRCh38): ENSG00000048392
EnsemblGeneIds (GRCh37): ENSG00000048392
OMIM: 604712, Gene2Phenotype
RRM2B is in 21 panels
5 reviews
Sarah Leigh (Genomics England Curator)
Comment on list classification: Rating changed from green to red, as the phenotypic features associated with RRM2B variants are metabolic renal disease / renal tubulopathy. RRM2B is green on Mitochondrial disorders (https://panelapp.genomicsengland.co.uk/panels/112/gene/RRM2B/) and Inborn errors of metabolism (https://panelapp.genomicsengland.co.uk/panels/467/gene/RRM2B/) panels.Created: 26 May 2020, 2:33 p.m. | Last Modified: 26 May 2020, 2:33 p.m.
Panel Version: 1.151
Zornitza Stark (Australian Genomics)
This is a metabolic renal disease/tubulopathy gene rather than CAKUT.Created: 16 Jan 2020, 4:31 a.m. | Last Modified: 16 Jan 2020, 4:31 a.m.
Panel Version: 1.41
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Bill Newman (Manchester Centre for Genomic Medicine)
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Provided by reviewer.Created: 29 Mar 2016, 10:34 a.m.
Comment on list classification: Promoted from amber to green as two reviewers in agreement.Created: 29 Mar 2016, 10:33 a.m.
Helen Stuart (University of Manchester)
This gene is associated with a tubulopathy renal phenotype rather than CAKUTCreated: 18 Oct 2015, 6:59 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075
- Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)
- OMIM
- 604712
- Clinvar variants
- Variants in RRM2B
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- CAKUT
- Rhabdomyolysis and metabolic muscle disorders
- White matter disorders and cerebral calcification - narrow panel
- Mitochondrial liver disease, including transient infantile liver failure
- Mitochondrial DNA maintenance disorder
- Unexplained kidney failure in young people
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- DDG2P
- Gastrointestinal neuromuscular disorders
- Intellectual disability
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Unexplained young onset end-stage renal disease - additional genes
- Possible mitochondrial disorder - nuclear genes
- Arthrogryposis
History Filter Activity
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: rrm2b has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for RRM2B was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)RRM2B was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)RRM2B was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen